V14A (p.Val14Ala) variant of IFNAR1 (Interferon alpha/beta receptor 1)
V14A (p.Val14Ala) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- gnomAD rs1229293322
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.44
- MetaLR 0.38
- MetaSVM -0.30
- CADD 24.50
- PolyPhen-2 0.67
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available